ID   GM04346
AC   CVCL_0M32
DR   CLO; CLO_0019560
DR   Coriell; GM04346
DR   Wikidata; Q54838496
RX   CelloPub=CLPUB00447;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:1884; CFTR; Simple; p.Phe508del (c.1521_1523delCTT); ClinVar=VCV000007105; Zygosity=Heterozygous (Coriell=GM04346).
CC   Sequence variation: Mutation; HGNC; HGNC:1884; CFTR; Simple; p.Trp1282Ter (c.3846G>A); ClinVar=VCV000007129; Zygosity=Heterozygous (Coriell=GM04346).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C2975; Cystic fibrosis
DI   ORDO; Orphanet_586; Cystic fibrosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_0M31 ! GM04345
SX   Male
AG   25Y
CA   Finite cell line
DT   Created: 10-04-15; Last updated: 19-12-24; Version: 14
//
RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992).
//